Asymptomatic myotonia congenita unmasked by severe hypothyroidism.

Elena Passeri; Valeria A Sansone; Chiara Verdelli; Marco Mendola; Sabrina Corbetta

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Asymptomatic myotonia congenita unmasked by severe hypothyroidism.

机译：无症状性先天性肌强直未表现为严重的甲状腺功能减退症。

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Myotonia congenita is an inherited muscle disorder sustained by mutations in the skeletal muscle chloride channel gene CLCN1. Symptoms vary from mild to severe and generalized myotonia and worsen with cold, stressful events and hormonal fluctuations. Here we report the case of a young woman who sought medical attention because of subacute onset of diffuse and severe limb myotonia. CLCN1 gene sequencing showed a heterozygous transversion (T550M), two polymorphisms and one silent mutation. Thyroid function screening revealed severe hypothyroidism. She was placed on l-thyroxine replacement therapy which dramatically improved myotonia. We conclude that hypothyroidism unmasked a genetically determined, clinically asymptomatic chloride channelopathy. Diagnostic work-up in patients with clinically isolated myotonia should not be limited to genetic screening of non-dystrophic or dystrophic myotonias. Considering the high prevalence of hypothyroidism in females, systematic thyroid function screening by looking for additional hypothyroid symptoms and serum TSH levels measurement is mandatory in these patients.

机译：先天性肌强直是由骨骼肌氯化物通道基因CLCN1突变引起的遗传性肌肉疾病。症状从轻度到重度和广泛性肌强直不等，并随着寒冷，紧张事件和荷尔蒙波动而恶化。在这里，我们报道了一名年轻女子的病例，该女子由于弥漫性和严重肢体肌强直的亚急性发作而寻求医疗救治。 CLCN1基因测序显示杂合转化（T550M），两个多态性和一个沉默突变。甲状腺功能检查发现严重甲状腺功能减退。她接受了左旋甲状腺素替代疗法，可显着改善肌强直。我们得出结论，甲状腺功能低下症掩盖了遗传确定的临床无症状的氯离子通道病。临床上分离出的肌强直患者的诊断检查不应局限于对非营养性或营养不良性肌强直的基因筛查。考虑到女性甲状腺功能低下症的患病率较高，在这些患者中必须通过寻找其他甲状腺功能减退症状和血清TSH水平进行系统的甲状腺功能筛查。

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《Neuromuscular disorders: NMD》 |2014年第4期|共3页
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Elena Passeri; Valeria A Sansone; Chiara Verdelli; Marco Mendola; Sabrina Corbetta;
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1. Asymptomatic myotonia congenita unmasked by severe hypothyroidism. [J] . Elena Passeri, Valeria A Sansone, Chiara Verdelli, Neuromuscular disorders: NMD . 2014,第4期

机译：无症状性先天性肌强直未表现为严重的甲状腺功能减退症。
2. CLCN1 CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia [J] . Gaitán‐pe?as Héctor, Armand‐Ugón Mercedes, Macaya Alfons, Muscle and Nerve . 2018,第1期

机译：Clcn1 Clcn1肌阳尼科尼氏菌具有可变遗传模式的突变表明了占主导地位肌室的新机制
3. Aerobic training in myotonia congenita: Effect on myotonia and fitness [J] . Andersen Grete, L?kken Nicoline, Vissing John Muscle and Nerve . 2017,第4期

机译：肌肌尼科尼塔的有氧训练：对肌动尼和健身的影响
4. Decision Making for Patients with Asymptomatic Severe Aortic Stenosis The Case for Preemptive Aortic Valve Replacement Surgery [C] . Tulvio S. Durand International Congress on Cardiomuscular Technologies . 2013

机译：患有无症状严重主动脉狭窄患者的决策，先发型主动脉瓣置换手术
5. Mouse Models of Periodic Paralysis in Andersen Tawil Syndrome and Functional Studies of Novel Nav1.4 Mutations in Myotonia & Myopathy [D] . ?Elia, Nathaniel Curtis 2020

机译：安德森三伐综合征治疗术后瘫痪的小鼠模型和新型NAV1.4突变术中的肌疗法突变功能研究
6. Myotonia Congenita and Syndromes Associated with Myotonia. Clinical-Genetic Studies of the Nondystrophic Myotonias [O] . Alan E. H. Emery 1978

机译：先天性肌强直和与肌强直有关的综合征。非营养性肌强直的临床遗传学研究
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Asymptomatic myotonia congenita unmasked by severe hypothyroidism.

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